Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia

Preferred Label : Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia;

ICD-11 definition : Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANOTHER syndrome as alternative name for this condition. Transmission is autosomal recessive.;

ICD-11 synonym : ANOTHER syndrome;

Détails

Origin ID

931852195;

UMLS CUI

C1857052;

Currated CISMeF NLP mapping
- Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections (disorder) [SNOMED CT concept]
- Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia [OMIM Phenotype]
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome [ORDO Disease]
- ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia [MeSH concept]
- ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections (disorder) [SNOMED CT concept]
- Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia [OMIM Phenotype]
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome [ORDO Disease]
- ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia [MeSH concept]
- ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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